Online Mendelian Inheritance in Man - LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2
Synonyms	BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 2 SEIP SYNDROME BRUNZELL SYNDROME, BSCL2-RELATED LIPODYSTROPHY, TOTAL, AND ACROMEGALOID GIGANTISM LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 2 CGL2 BERARDINELLI SYNDROME LIPOATROPHIC DIABETES, CONGENITAL
ID	http://purl.bioontology.org/ontology/OMIM/269700
altLabel	BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 2 SEIP SYNDROME BRUNZELL SYNDROME, BSCL2-RELATED LIPODYSTROPHY, TOTAL, AND ACROMEGALOID GIGANTISM LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 2 CGL2 BERARDINELLI SYNDROME LIPOATROPHIC DIABETES, CONGENITAL
cui	C1720863
Gene Locus	11q13
Gene Symbol	HMND13 SPG17 BSCL2 PELD
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU002598 http://purl.bioontology.org/ontology/OMIM/MTHU002091 http://purl.bioontology.org/ontology/OMIM/MTHU000372 http://purl.bioontology.org/ontology/OMIM/MTHU001452 http://purl.bioontology.org/ontology/OMIM/MTHU009507 http://purl.bioontology.org/ontology/OMIM/MTHU002079 http://purl.bioontology.org/ontology/OMIM/MTHU002083 http://purl.bioontology.org/ontology/OMIM/MTHU053772 http://purl.bioontology.org/ontology/OMIM/MTHU036369 http://purl.bioontology.org/ontology/OMIM/MTHU001221 http://purl.bioontology.org/ontology/OMIM/MTHU002076 http://purl.bioontology.org/ontology/OMIM/MTHU002072 http://purl.bioontology.org/ontology/OMIM/MTHU002078 http://purl.bioontology.org/ontology/OMIM/MTHU014363 http://purl.bioontology.org/ontology/OMIM/MTHU002087 http://purl.bioontology.org/ontology/OMIM/MTHU002073 http://purl.bioontology.org/ontology/OMIM/MTHU002089 http://purl.bioontology.org/ontology/OMIM/MTHU002077 http://purl.bioontology.org/ontology/OMIM/MTHU002074 http://purl.bioontology.org/ontology/OMIM/MTHU002092 http://purl.bioontology.org/ontology/OMIM/MTHU010581 http://purl.bioontology.org/ontology/OMIM/MTHU002088 http://purl.bioontology.org/ontology/OMIM/MTHU002090 http://purl.bioontology.org/ontology/OMIM/MTHU053771 http://purl.bioontology.org/ontology/OMIM/MTHU036522 http://purl.bioontology.org/ontology/OMIM/MTHU007103 http://purl.bioontology.org/ontology/OMIM/MTHU036382 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU002086 http://purl.bioontology.org/ontology/OMIM/MTHU002084 http://purl.bioontology.org/ontology/OMIM/MTHU007700 http://purl.bioontology.org/ontology/OMIM/MTHU002081 http://purl.bioontology.org/ontology/OMIM/MTHU002054 http://purl.bioontology.org/ontology/OMIM/MTHU002075 http://purl.bioontology.org/ontology/OMIM/MTHU002080 http://purl.bioontology.org/ontology/OMIM/MTHU002082
MIMTYPEMEANING	Phenotype description, molecular basis known.
Moved from	272500
notation	269700
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2
Scope Statement	Onset at birth or early infancy [MISCELLANEOUS] Caused by mutations in the seipin gene (BSCL2, 606158.0001). [MOLECULAR BASIS]
tui	T019

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D052497	MESH	CUI
http://purl.bioontology.org/ontology/MSHFRE/D052497	MSHFRE	CUI